Familial transthyretin-related amyloid polyneuropathy in a Malaysian patient of ethnic Chinese descent

Familial amyloid polyneuropathy is commonly the result of deposition of variant transthyretin in nerves and other organs. Apart from the Val30Met variant commonly seen in endemic areas of familial amyloid polyneuropathy, many transthyretin mutations have been described in various populations worldwide. We report a Malaysian patient of ethnic Chinese descent with familial amyloid polyneuropathy and a transthyretin mutation, Ala117Ser. This mutation has not been previously reported in Chinese patients. He presented in middle-age with carpal tunnel syndrome followed progressive sensorimotor polyneuropathy. There was evidence of autonomic dysfunction clinically and cardiomyopathy on 2D-echocardiography. Familial amyloid polyneuropathy is uncommon in Asian patients outside Japan, but the diagnosis should be considered in a progressive late onset sensorimotor axonal polyneuropathy.